rs759125480
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1210124629
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively.
|
30007050 |
2018 |
rs1323833193
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein.
|
29054759 |
2018 |
rs367652299
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively.
|
30007050 |
2018 |
rs62096875
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively.
|
30007050 |
2018 |
rs749275495
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively.
|
30007050 |
2018 |
rs755981922
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein.
|
29054759 |
2018 |
rs755981922
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein.
|
29054759 |
2018 |
rs376621016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The TBX5 variation p.Pro108Thr, located in the T-box domain, was identified in a patient with tricuspid atresia, an exon-intron boundary variation of GATA4 (IVS4+5G>A) was detected in a Tetralogy of Fallot patient and an 8p23 microdeletion was detected in one patient with atrioventricular septal defect and psychomotor delay.
|
26490186 |
2016 |
rs4808863
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggest that the GDF1 rs4808863 polymorphism contributes to an increased risk of fetal CHDs, especially the subtypes of AVSD, LVOTO and left-right laterality defects.
|
26656983 |
2015 |
rs114878910
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All the heterozygous neonatal Nkx2-5(+/R52G) mice demonstrated a prominent trabecular layer in the ventricular wall, so called noncompaction, along with diverse cardiac anomalies, including atrioventricular septal defects, Ebstein malformation of the tricuspid valve, and perimembranous and muscular ventricular septal defects.
|
25028484 |
2014 |
rs3774207
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, two haplotypes, C-T-C and C-T-T, in the order of loci rs9878047-rs3774207-rs73118372 were associated with incidence of AVSD among euploid and Down syndrome, with a slightly higher odds ratio in the later group.
|
22987595 |
2012 |
rs73118372
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, two haplotypes, C-T-C and C-T-T, in the order of loci rs9878047-rs3774207-rs73118372 were associated with incidence of AVSD among euploid and Down syndrome, with a slightly higher odds ratio in the later group.
|
22987595 |
2012 |
rs9878047
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, two haplotypes, C-T-C and C-T-T, in the order of loci rs9878047-rs3774207-rs73118372 were associated with incidence of AVSD among euploid and Down syndrome, with a slightly higher odds ratio in the later group.
|
22987595 |
2012 |
rs137852686
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Surprisingly, all AVSD patients (22/23) had a single K183E mutation in the DNA binding domain, which resulted in transcriptional inactivation.
|
15917268 |
2005 |